{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=500&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=460&ordering=-synonyms","results":[{"identifier":"Cardiomyopathy, dilated, 2H.","acronym":"CMD2H.","accession":"DI-06595","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2H is an autosomal recessive form characterized by rapid progression and death in early infancy. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Autoimmune disease, multisystem, infantile-onset, 1.","acronym":"ADMIO1.","accession":"DI-04194","synonyms":null,"cross_references":"MeSH; D001327.","definition":"A disorder characterized by early childhood onset of a spectrum of autoimmune manifestations affecting multiple organs, including insulin-dependent diabetes mellitus and autoimmune enteropathy or celiac disease. Other features include short stature, non-specific dermatitis, hypothyroidism, autoimmune arthritis, and delayed puberty. ","keywords":"KW-0219:Diabetes mellitus.; KW-0242:Dwarfism.; "},{"identifier":"Autoimmune disease, multisystem, infantile-onset, 2.","acronym":"ADMIO2.","accession":"DI-04749","synonyms":null,"cross_references":"MeSH; D001327.","definition":"An autosomal recessive, autoimmune disorder characterized by systemic manifestations including blistering skin disease, uncontrollable bullous pemphigoid, inflammatory colitis, autoimmune hypothyroidism, proteinuria and nephrotic syndrome. ","keywords":null},{"identifier":"Amyloidosis, hereditary systemic 5.","acronym":"AMYLD5.","accession":"DI-06895","synonyms":null,"cross_references":"MeSH; D028226.","definition":"A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD5 primarily affects the viscera, and the predominant clinical features are renal dysfunction of varying severity, and intra-abdominal bleeding. Inheritance is autosomal dominant. ","keywords":"KW-1008:Amyloidosis.; "},{"identifier":"Amyloidosis, hereditary systemic 6.","acronym":"AMYLD6.","accession":"DI-06896","synonyms":null,"cross_references":"MeSH; D028226.","definition":"A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD6 is mainly characterized by gastrointestinal and cardiac symptoms. Neurologic involvement, sicca syndrome, and carpal tunnel syndrome may also be present. Inheritance is autosomal dominant. ","keywords":"KW-1008:Amyloidosis.; "},{"identifier":"Autoimmune interstitial lung, joint, and kidney disease.","acronym":"AILJK.","accession":"DI-04454","synonyms":null,"cross_references":"MeSH; D001327.","definition":"An autoimmune disease characterized by inflammatory arthritis, interstitial lung disease, and immune complex-mediated renal disease. ","keywords":null},{"identifier":"Achondroplasia.","acronym":"ACH.","accession":"DI-00021","synonyms":null,"cross_references":"MeSH; D000130.","definition":"A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Buratti-Harel syndrome.","acronym":"BURHAS.","accession":"DI-06101","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by hypotonia apparent in early infancy, global developmental delay, delayed walking, language and speech delay, impaired intellectual development, and dysmorphic facial features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia.","acronym":"ALS15.","accession":"DI-03271","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS15 may develop frontotemporal dementia. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Cardiomyopathy, dilated, 1CC.","acronym":"CMD1CC.","accession":"DI-02530","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Spermatogenic failure 36.","acronym":"SPGF36.","accession":"DI-05555","synonyms":null,"cross_references":"MeSH; D007248.","definition":"An autosomal dominant infertility disorder due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus. ","keywords":null},{"identifier":"Adrenal insufficiency, NR5A1-related.","acronym":"AINR.","accession":"DI-05003","synonyms":null,"cross_references":"MeSH; D000309.","definition":"A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt- wasting crisis, prolonged jaundice, hypoglycemia, and vomiting. ","keywords":null},{"identifier":"Autoimmune thyroid disease 3.","acronym":"AITD3.","accession":"DI-02878","synonyms":null,"cross_references":"MeSH; D013967.","definition":"A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism. ","keywords":null},{"identifier":"Autoinflammation with arthritis and dyskeratosis.","acronym":"AIADK.","accession":"DI-04967","synonyms":null,"cross_references":"MeSH; D056660.","definition":"A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. ","keywords":null},{"identifier":"Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2.","acronym":"CHINE2.","accession":"DI-06696","synonyms":null,"cross_references":"MeSH; D009404.","definition":"An autosomal recessive disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. It results in death in early childhood. ","keywords":"KW-0209:Deafness.; KW-0898:Cataract.; "},{"identifier":"Bardet-Biedl syndrome 18.","acronym":"BBS18.","accession":"DI-04077","synonyms":null,"cross_references":"MeSH; D020788.","definition":"A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ","keywords":"KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "},{"identifier":"Autoinflammation with infantile enterocolitis.","acronym":"AIFEC.","accession":"DI-04246","synonyms":null,"cross_references":"MeSH; D056660.","definition":"An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias. ","keywords":null},{"identifier":"Autoinflammation with pulmonary and cutaneous vasculitis.","acronym":"AIPCV.","accession":"DI-06633","synonyms":null,"cross_references":"MeSH; D056660.","definition":"An autosomal dominant disorder characterized by cutaneous vasculitis and chronic pulmonary inflammation that evolves to fibrosis. AIPCV manifests soon after birth with petechial skin lesions, followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. ","keywords":null},{"identifier":"Autoinflammation, antibody deficiency, and immune dysregulation.","acronym":"APLAID.","accession":"DI-03601","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies. ","keywords":null},{"identifier":"Combined malonic and methylmalonic aciduria.","acronym":"CMAMMA.","accession":"DI-03246","synonyms":null,"cross_references":"MeSH; D008052.","definition":"A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline. ","keywords":null}]}